Proband information
Proband id | 4050 |
---|---|
Systematic Name (NM_004992.3:) |
c.1141C>G |
Protein name (NP_004983) |
p.Pro381Ala |
Alternate systematic Name (NM_001110792.1:) |
c.1177C>G |
Alternate Protein name (NP_001104262) |
p.(Pro393Ala) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296138G>C |
Mutation type | missense |
Domain | C-term |
Pathogenicity | Polymorphism not causing disease |
Evidence of Pathogenicity | |
Detection | direct |
Extent | exons 2-4 |
Source of DNA | blood |
Carrier | |
Carrier result | |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Male |
Sporadic/Familial | familial |
Phenotype-class | Not Rett synd.-unaffected family member |
Reference | MECP2 gene mutation analysis in Chinese patients with Rett syndrome:Pan, H., Wang, Y.-P., Bao, X.-H., Meng, H.-D., Zhang, Y., Wu, X.-R-. Shen, Y.:European Journal of Human Genetics: 12111643 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.1141C>G | p.Pro381Ala | Female | found in unaffected father | Rett syndrome-classical | 3012 | MECP2 gene mutation analysis in Chinese patients with Rett syndrome:Pan, H., Wang, Y.-P., Bao, X.-H., Meng, H.-D., Zhang, Y., Wu, X.-R-. Shen, Y.:European Journal of Human Genetics: 12111643 |
2 | c.1141C>G | p.Pro381Ala | Male | Not Rett synd. | 4050 | MECP2 gene mutation analysis in Chinese patients with Rett syndrome:Pan, H., Wang, Y.-P., Bao, X.-H., Meng, H.-D., Zhang, Y., Wu, X.-R-. Shen, Y.:European Journal of Human Genetics: 12111643 |